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Dineke Westra

Showing results (1-10 of 36) with videos related to

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Clinical Chemistry|June 12, 2024
Detection of DNA Contamination in Prenatal Samples from Whole Exome Sequencing DataSanne P Smeekens, Raoul Timmermans, Dineke Westra, et al.
Respiration; International Review of Thoracic Diseases|March 30, 2025
A Unique Combination of Heterozygous CFTR Gene Variants in a Person with Cystic Fibrosis and Mycobacterium abscessus InfectionArthur Lemson, Cedric Bosteels, Jakko van Ingen, et al.
Respiratory Investigation|August 2, 2025
The spectrum of CFTR dysfunction in patients with nontuberculous mycobacterial pulmonary diseaseArthur Lemson, Monique Reijers, Dineke Westra, et al.
Pediatric Nephrology (Berlin, Germany)|June 7, 2012
Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H bindingElena Volokhina, Dineke Westra, Xiaoguang Xue, et al.
Endocrinology, Diabetes & Metabolism Case Reports|May 15, 2023
Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic fatherRahim Karim Damji, Mohamed Zahir Alimohamed, Hedi L Claahsen-van der Grinten, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 30, 2008
Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosisMarije Löwik, Elena Levtchenko, Dineke Westra, et al.
The Journal of Clinical Endocrinology and Metabolism|January 23, 2026
Approach to the Patient: Comprehensive Multidisciplinary Care for Adolescents with Difference in Sex Development (DSD)L Claahsen-van der Grinten, Antonius van Herwaarden, Marlies Kempers, et al.
Journal of Human Genetics|May 25, 2012
Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 geneDineke Westra, Katherine A Vernon, Elena B Volokhina, et al.
European Journal of Pediatrics|August 22, 2013
Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiencyRoel A J Kurvers, Dineke Westra, Arno F van Heijst, et al.
Archives of Disease in Childhood|August 8, 2025
21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluationAnouk Olthof, Marelle J Bouva, Hedi L Claahsen-van der Grinten, et al.
Pageof 4

Showing results (1-10 of 36) with videos related to

Sort By:
Pageof 4
Clinical Chemistry|June 12, 2024
Detection of DNA Contamination in Prenatal Samples from Whole Exome Sequencing DataSanne P Smeekens, Raoul Timmermans, Dineke Westra, et al.
Respiration; International Review of Thoracic Diseases|March 30, 2025
A Unique Combination of Heterozygous CFTR Gene Variants in a Person with Cystic Fibrosis and Mycobacterium abscessus InfectionArthur Lemson, Cedric Bosteels, Jakko van Ingen, et al.
Respiratory Investigation|August 2, 2025
The spectrum of CFTR dysfunction in patients with nontuberculous mycobacterial pulmonary diseaseArthur Lemson, Monique Reijers, Dineke Westra, et al.
Pediatric Nephrology (Berlin, Germany)|June 7, 2012
Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H bindingElena Volokhina, Dineke Westra, Xiaoguang Xue, et al.
Endocrinology, Diabetes & Metabolism Case Reports|May 15, 2023
Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic fatherRahim Karim Damji, Mohamed Zahir Alimohamed, Hedi L Claahsen-van der Grinten, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 30, 2008
Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosisMarije Löwik, Elena Levtchenko, Dineke Westra, et al.
The Journal of Clinical Endocrinology and Metabolism|January 23, 2026
Approach to the Patient: Comprehensive Multidisciplinary Care for Adolescents with Difference in Sex Development (DSD)L Claahsen-van der Grinten, Antonius van Herwaarden, Marlies Kempers, et al.
Journal of Human Genetics|May 25, 2012
Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 geneDineke Westra, Katherine A Vernon, Elena B Volokhina, et al.
European Journal of Pediatrics|August 22, 2013
Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiencyRoel A J Kurvers, Dineke Westra, Arno F van Heijst, et al.
Archives of Disease in Childhood|August 8, 2025
21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluationAnouk Olthof, Marelle J Bouva, Hedi L Claahsen-van der Grinten, et al.
Pageof 4